A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516523



Internal ID292977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30015980..30024000hg38UCSC Ensembl
chr17:28342998..28351018hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388021
hg198021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712456
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516523
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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